ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001328025 SCV001519358 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM2, PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
Invitae RCV001365703 SCV001561980 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 854 of the CDH23 protein (p.Arg854Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs768340895, ExAC 0.002%). This variant has not been reported in the literature in individuals with CDH23-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Not Available; Align-GVGD: Class C). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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